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- Publications
- Influence
A reference panel of 64,976 haplotypes for genotype imputation
- S. McCarthy, S. Das, +106 authors R. Durbin
- Biology, Medicine
- Nature Genetics
- 22 August 2016
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads… Expand
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
- E. Cirulli, Brittany N. Lasseigne, +68 authors D. Goldstein
- Biology, Medicine
- Science
- 27 March 2015
New players in Lou Gehrig's disease Amyotrophic lateral sclerosis (ALS), often referred to as “Lou Gehrig's disease,” is a progressive neurodegenerative disease that affects nerve cells in the brain… Expand
Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis
- Chi-Hong Wu, C. Fallini, +35 authors J. Landers
- Biology, Medicine
- Nature
- 4 June 2012
Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder resulting from motor neuron death. Approximately 10% of cases are familial (FALS), typically with a dominant inheritance… Expand
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
- C. Anderson, G. Boucher, +110 authors J. Rioux
- Biology, Medicine
- Nature Genetics
- 6 February 2011
Genome-wide association studies and candidate gene studies in ulcerative colitis have identified 18 susceptibility loci. We conducted a meta-analysis of six ulcerative colitis genome-wide association… Expand
Multiple common variants for celiac disease influencing immune gene expression
- P. Dubois, G. Trynka, +64 authors D. V. van Heel
- Biology, Medicine
- Nature Genetics
- 8 February 2010
We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with PGWAS < 10−4 and 18… Expand
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
- C. Simpson, R. Lemmens, +27 authors A. Al-Chalabi
- Biology, Medicine
- Human molecular genetics
- 1 November 2008
Amyotrophic lateral sclerosis (ALS) is a spontaneous, relentlessly progressive motor neuron disease, usually resulting in death from respiratory failure within 3 years. Variation in the genes SOD1… Expand
Protein aggregation in amyotrophic lateral sclerosis
- A. Blokhuis, Ewout J N Groen, M. Koppers, L. H. van den Berg, R. J. Pasterkamp
- Biology, Medicine
- Acta Neuropathologica
- 15 May 2013
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the aggregation of ubiquitinated proteins in affected motor neurons. Recent studies have identified several new… Expand
Evidence for an oligogenic basis of amyotrophic lateral sclerosis.
- M. van Blitterswijk, M. V. van Es, +10 authors L. H. van den Berg
- Biology, Medicine
- Human molecular genetics
- 1 September 2012
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with a substantial heritable component. In pedigrees affected by its familial form, incomplete penetrance is often observed.… Expand
C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits
- M. Koppers, A. Blokhuis, +9 authors R. J. Pasterkamp
- Medicine
- Annals of neurology
- 3 July 2015
How hexanucleotide (GGGGCC) repeat expansions in C9ORF72 cause amyotrophic lateral sclerosis (ALS) remains poorly understood. Both gain‐ and loss‐of‐function mechanisms have been proposed. Evidence… Expand
Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis
- E. Verstraete, J. Veldink, J. Hendrikse, H. Schelhaas, M. P. van den Heuvel, L. H. van den Berg
- Psychology, Medicine
- Journal of Neurology, Neurosurgery & Psychiatry
- 29 September 2011
Objectives Amyotrophic lateral sclerosis (ALS) is a fatal disease characterised by combined upper and lower motor neuron degeneration. An early and accurate diagnosis is important for patient care… Expand